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Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

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Abstract

Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T→C transition at codon 151 of exon 5. This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date.

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Authors and Affiliations

  1. Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, D-35392 Giessen, Germany Tel.: +49-641-702 e-mail Ulrich.Mueller@Humangenetik.Med.Uni-Giessen.de, , , , , , DE

    Markus Kostrzewa & U. Müller

  2. Neurologische Klinik, Justus-Liebig-Universität, Am Steg 18, D-35392 Giessen, Germany, , , , , , DE

    Maxwell S. Damian

Authors
  1. Markus Kostrzewa
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  2. Maxwell S. Damian
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  3. U. Müller
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Received: 5 February 1996 / Revised: 9 February 1996

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Kostrzewa, M., Damian, M. & Müller, U. Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis . Hum Genet 98, 48–50 (1996). https://doi.org/10.1007/s004390050157

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  • DOI: https://doi.org/10.1007/s004390050157

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